Zobrazeno 1 - 10
of 519
pro vyhledávání: '"inherited diseases"'
Publikováno v:
Ibn Al-Haitham Journal for Pure and Applied Sciences, Vol 37, Iss 2 (2024)
Although not uncommon worldwide, consanguinity has been a part of Arab culture and tradition as a means to strengthen tribal blood relations. However, this type of union has been linked to inherited diseases, particularly those of a recessive nature
Externí odkaz:
https://doaj.org/article/daf800b3b35e46e6befcbb14fde8ea7b
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations
Autor:
Chao Chen, Min-Xin Guan
Publikováno v:
Journal of Biomedical Science, Vol 30, Iss 1, Pp 1-15 (2023)
Abstract Mitochondria are essential organelles for cellular metabolism and physiology in eukaryotic cells. Human mitochondria have their own genome (mtDNA), which is maternally inherited with 37 genes, encoding 13 polypeptides for oxidative phosphory
Externí odkaz:
https://doaj.org/article/a0a3e179970d4d8d9c1085976cd29370
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 13 (2023)
BackgroundGene therapy involves introducing and editing foreign genes in the body to treat and prevent genetic diseases. Adeno-associated virus (AAV) vector has become a widely used tool in gene therapy due to its high safety and transfection efficie
Externí odkaz:
https://doaj.org/article/0e741318d124475db81b575312378369
Autor:
Malak Abedalthagafi, Shahad Bawazeer, Romy I. Fawaz, A. Merrihew Heritage, Nouf M. Alajaji, Eissa Faqeih
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Non-invasive prenatal testing (NIPT) is a pioneering technique that has consistently advanced the field of prenatal testing to detect genetic abnormalities and conditions with the aim of decreasing the incidence and prevalence of inherited conditions
Externí odkaz:
https://doaj.org/article/dbeca6cb54fe4f88ba38268a35274b19
Publikováno v:
BIO Integration, Vol 3, Iss 4, Pp 161-171 (2022)
Large-animal models show greater advantages than rodents in recapitulating human genetic diseases, primarily because of their higher similarity to humans in terms of anatomy, physiology and genetics. Notably, as genome-editing technologies have rapid
Externí odkaz:
https://doaj.org/article/8b5637b1b77049fb95e04dabb1ae44c1
Publikováno v:
Medical Review, Vol 2, Iss 5, Pp 471-500 (2022)
Advancements in genome editing enable permanent changes of DNA sequences in a site-specific manner, providing promising approaches for treating human genetic disorders caused by gene mutations. Recently, genome editing has been applied and achieved s
Externí odkaz:
https://doaj.org/article/45e6a83413784a11ad4c5113fbcedeef
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 33-38 (2022)
The MEFV (familial Mediterranean fever gene) researches were performed in the population of the Republic of Azerbaijan in 2016–2021. Seven mutations of the MEFV gene were identified in heterozygous, homozygous and compound homozygous conditions: R7
Externí odkaz:
https://doaj.org/article/620469b64b034bebb9c418b9955eb76b
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The skin of mammals is a multilayered and multicellular tissue that forms an environmental barrier with key functions in protection, regulation, and sensation. While animal models have long served to study the basic functions of the skin in vivo, new
Externí odkaz:
https://doaj.org/article/2dfe0bb8b44d44cfa57980f6586ac96a
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.